Article
Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.
Movement disorders : official journal of the Movement Disorder Society - 1 Jan 2022
Magrinelli Francesca, Mehta Sahil, Di Lazzaro Giulia, Latorre Anna, Edwards Mark J, Balint Bettina, Basu Purba, Kobylecki Christopher, Groppa Sergiu, Hegde Anaita, Mulroy Eoin, Estevez-Fraga Carlos, Arora Anshita, Kumar Hrishikesh, Schneider Susanne A, Lewis Patrick A, Jaunmuktane Zane, Revesz Tamas, Gandhi Sonia, Wood Nicholas W, Hardy John A, Tinazzi Michele, Lal Vivek, Houlden Henry, Bhatia Kailash P
Abstract excerpt
BACKGROUND: Complex parkinsonism is the commonest phenotype in late-onset PLA2G6-associated neurodegeneration. OBJECTIVES: The aim of this study was to deeply characterize phenogenotypically PLA2G6-related parkinsonism in the largest cohort ever reported. METHODS: We report 14 new cases of PLA2G6-related parkinsonism and perform a systematic literature review. RESULTS: PLA2G6-related parkinsonism shows a fairly...
Topics
- Age of Onset
- Atrophy
- Dystonia
- Genotype
- Group VI Phospholipases A2
- Humans
- Mutation
- Parkinsonian Disorders
- Pedigree